Tsukahara M, Kajii T
Department of Pediatrics, Yamaguchi University School of Medicine, Yamaguchi-ken, Japan.
Clin Dysmorphol. 1992 Jul;1(3):165-7.
Hypertrichosis was noted on a confined area of skin in the midline of the throat, just cranial to the laryngeal prominence, in three males and four females through three generations of a Japanese family. The proband, an 11-year-old girl, in addition had a 46 X,i(Xq) karyotype, short stature and other stigmata of the Turner syndrome. Her mother and one younger brother both had a hairy throat on examination. On the mother's side, the proband's grandmother, aunt, uncle and a male cousin, all reportedly had a hairy throat. No instance of male-to-male transmission was present. The trait was thus inherited as either an autosomal or X-linked dominant.
在一个日本家族的三代人中，三名男性和四名女性的喉咙中线、喉结上方的皮肤局限区域出现多毛症。先证者是一名11岁女孩，此外还有46,X,i(Xq)核型、身材矮小以及特纳综合征的其他体征。检查发现她的母亲和一个弟弟喉咙也有毛发。在先证者母亲一方，据报道其祖母、姑姑、叔叔和一个男性表亲喉咙均有毛发。不存在男性向男性的传递情况。因此，该性状以常染色体显性或X连锁显性方式遗传。
